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  2. Generalised pustular psoriasis
  3. TRPV3
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Generalised pustular psoriasis

Gene: TRPV3

Red List (low evidence)
TRPV3 (transient receptor potential cation channel subfamily V member 3)
EnsemblGeneIds (GRCh38): ENSG00000167723
EnsemblGeneIds (GRCh37): ENSG00000167723
OMIM: 607066, Gene2Phenotype
TRPV3 is in 8 panels

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

I don't know

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a probable Developmental Disorder Gene for Olmsted syndrome 614594. Four variants reported in Olmsted syndrome 614594 and one in Palmoplantar keratoderma, nonepidermolytic, focal 2 616400, however these phenotypes may not be relevant for this panel
Created: 4 Nov 2016, 4:09 p.m.
Comment on phenotypes: Also associated with Olmsted syndrome 614594
Created: 4 Nov 2016, 3:47 p.m.
Created: 4 Nov 2016, 3:47 p.m.

Panel version: 0.47

Francesca Capon (King's College London)

I don't know

Created: 15 Dec 2015, 9:32 p.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal 2 616400
  • AD 3 Olmsted syndrome 614594
OMIM
607066
Clinvar variants
Variants in TRPV3
Penetrance
Complete
Panels with this gene

History Filter Activity

3 May 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for TRPV3 were set to Palmoplantar keratoderma, nonepidermolytic, focal 2 616400; AD 3 Olmsted syndrome 614594

24 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 24/11/2016

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TRPV3 were set to Palmoplantar keratoderma, nonepidermolytic, focal 2 616400; AD 3 Olmsted syndrome 614594

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TRPV3 were set to Palmoplantar keratoderma, nonepidermolytic, focal 2 616400

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV3 was added to Generalised pustular psoriasispanel. Sources: Illumina TruGenome Clinical Sequencing Services